Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers.

ABSTRACT:

Objective

Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers.

Methods

Two complementary web-based surveys were distributed in August 2024 among patients with SMA and their caregivers. Non-ambulant patients with SMA currently receiving risdiplam or nusinersen, and/or their primary, informal caregivers were eligible to participate. Survey modules captured clinical, humanistic, productivity, and caregiver-related burden of disease. The PROMIS Fatigue and EQ-5D-5L were used to assess fatigue and quality of life.

Results

40 pediatric (mean age 8.3 years; represented by caregiver proxies) and 68 adult patients (mean age 37.5 years)

SUBMITTER: Parsons JA 

PROVIDER: S-EPMC12516228 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature